Down syndrome national patient registry in the works

The National Institutes of Health (NIH) is creating a national patient registry of people with Down syndrome to connect families and researchers as they coordinate care and share resources, according to an announcement.

It awarded a $300,000 contract to PatientCrossroads, which previously created registries for patients with muscular dystrophy and rare disorders, to maintain the registry through September 2013.

Users of the registry will be able to enter contact information and health history in the secure, confidential database, customize their profile, update it online, and choose which information they would like to display. They can elect to receive reminders about their medical care and general information about Down syndrome. They also will be able to compare their own medical information to that of other registrants confidentially and anonymously.

With their permission, clinicians and researchers authorized to access the database will be able to contact participants to gauge their interest in participating in research. Plans call for it also to link a biobank of tissue samples and other resources for research.

The registry will be housed at the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development, which is funding the project. A patient registry was a leading recommendation in the 2007 NIH Down Syndrome Research Plan, which set goals for Down syndrome research.

"This is so important to get even a baseline on health issues associated with Down syndrome," said Michelle Sie Whitten, executive director of the Global Down Syndrome Foundation, in a release

"Clearly other conditions and diseases have registries and biobanks, and our community deserves the same. The advantage of being late to the table is that we have put lots of best-practice protections in place to benefit people with Down syndrome and their families. Clearly if implemented and supported appropriately, this will be a huge game-changer regarding health outcomes for our children and adults with Down syndrome."

Citing the importance of patient registries to recruitment for clinical trials, the U.S. Department of Health & Human Services' Agency for Healthcare Research and Quality in April announced plans to create a registry of patient registries, similar to its clinical trials databank launched in 2000.

Researchers from Children's Hospital of Eastern Ontario Research Institute in Canada in July reported using cryptographic techniques to develop a secure protocol for linking data registries for research.

Meanwhile, a report from June looking at value-based healthcare in 12 countries called for better data standards and patient registries to overcome the complexity and fragmentation of healthcare in the United States.

To learn more:
- here's the announcement
- read the Global Down Syndrome Foundation release


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